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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-219425726-TCGAGA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219425726&ref=TCGAGA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Strong",
"PM2"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "DES",
"hgnc_id": 2770,
"hgvs_c": "c.1353_1356delCGAG",
"hgvs_p": "p.Glu452fs",
"inheritance_mode": "SD,AR,AD",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001927.4",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000234638",
"hgnc_id": null,
"hgvs_c": "n.104+351_104+354delCTCG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000431827.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 470,
"aa_ref": "IE",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": 1439,
"cds_end": null,
"cds_length": 1413,
"cds_start": 1353,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001927.4",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1353_1356delCGAG",
"hgvs_p": "p.Glu452fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373960.4",
"protein_coding": true,
"protein_id": "NP_001918.3",
"strand": true,
"transcript": "NM_001927.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 470,
"aa_ref": "IE",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": 1439,
"cds_end": null,
"cds_length": 1413,
"cds_start": 1353,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000373960.4",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1353_1356delCGAG",
"hgvs_p": "p.Glu452fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001927.4",
"protein_coding": true,
"protein_id": "ENSP00000363071.3",
"strand": true,
"transcript": "ENST00000373960.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 511,
"aa_ref": "IE",
"aa_start": 492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2313,
"cdna_start": 1511,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1476,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000942906.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1476_1479delCGAG",
"hgvs_p": "p.Glu493fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612965.1",
"strand": true,
"transcript": "ENST00000942906.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 508,
"aa_ref": "IE",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2359,
"cdna_start": 1553,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1467,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000942898.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1467_1470delCGAG",
"hgvs_p": "p.Glu490fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612957.1",
"strand": true,
"transcript": "ENST00000942898.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 506,
"aa_ref": "IE",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2349,
"cdna_start": 1547,
"cds_end": null,
"cds_length": 1521,
"cds_start": 1461,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869000.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1461_1464delCGAG",
"hgvs_p": "p.Glu488fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539059.1",
"strand": true,
"transcript": "ENST00000869000.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 494,
"aa_ref": "IE",
"aa_start": 475,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2315,
"cdna_start": 1511,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1425,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000868999.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1425_1428delCGAG",
"hgvs_p": "p.Glu476fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539058.1",
"strand": true,
"transcript": "ENST00000868999.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 490,
"aa_ref": "IE",
"aa_start": 471,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2301,
"cdna_start": 1499,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1413,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000942903.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1413_1416delCGAG",
"hgvs_p": "p.Glu472fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612962.1",
"strand": true,
"transcript": "ENST00000942903.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 486,
"aa_ref": "IE",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3194,
"cdna_start": 2390,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1401,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000868989.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1401_1404delCGAG",
"hgvs_p": "p.Glu468fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539048.1",
"strand": true,
"transcript": "ENST00000868989.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 478,
"aa_ref": "IE",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2272,
"cdna_start": 1463,
"cds_end": null,
"cds_length": 1437,
"cds_start": 1377,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000868993.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1377_1380delCGAG",
"hgvs_p": "p.Glu460fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539052.1",
"strand": true,
"transcript": "ENST00000868993.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 477,
"aa_ref": "IE",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2266,
"cdna_start": 1460,
"cds_end": null,
"cds_length": 1434,
"cds_start": 1374,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000868996.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1374_1377delCGAG",
"hgvs_p": "p.Glu459fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539055.1",
"strand": true,
"transcript": "ENST00000868996.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 476,
"aa_ref": "IE",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2261,
"cdna_start": 1457,
"cds_end": null,
"cds_length": 1431,
"cds_start": 1371,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000868997.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1371_1374delCGAG",
"hgvs_p": "p.Glu458fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539056.1",
"strand": true,
"transcript": "ENST00000868997.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 469,
"aa_ref": "IE",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2240,
"cdna_start": 1436,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1350,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001382708.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1350_1353delCGAG",
"hgvs_p": "p.Glu451fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369637.1",
"strand": true,
"transcript": "NM_001382708.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 469,
"aa_ref": "IE",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2245,
"cdna_start": 1436,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1350,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000868992.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1350_1353delCGAG",
"hgvs_p": "p.Glu451fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539051.1",
"strand": true,
"transcript": "ENST00000868992.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 466,
"aa_ref": "IE",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2237,
"cdna_start": 1429,
"cds_end": null,
"cds_length": 1401,
"cds_start": 1341,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000942892.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1341_1344delCGAG",
"hgvs_p": "p.Glu448fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612951.1",
"strand": true,
"transcript": "ENST00000942892.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 466,
"aa_ref": "IE",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2231,
"cdna_start": 1439,
"cds_end": null,
"cds_length": 1401,
"cds_start": 1353,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000942901.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1353_1356delCGAG",
"hgvs_p": "p.Glu452fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612960.1",
"strand": true,
"transcript": "ENST00000942901.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 465,
"aa_ref": "IE",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1639,
"cdna_start": 1439,
"cds_end": null,
"cds_length": 1398,
"cds_start": 1353,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001382712.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1353_1356delCGAG",
"hgvs_p": "p.Glu452fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369641.1",
"strand": true,
"transcript": "NM_001382712.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 464,
"aa_ref": "IE",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2230,
"cdna_start": 1421,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1335,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000868990.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1335_1338delCGAG",
"hgvs_p": "p.Glu446fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539049.1",
"strand": true,
"transcript": "ENST00000868990.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 464,
"aa_ref": "IE",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2229,
"cdna_start": 1421,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1335,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000942893.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1335_1338delCGAG",
"hgvs_p": "p.Glu446fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612952.1",
"strand": true,
"transcript": "ENST00000942893.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 463,
"aa_ref": "IE",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": 1418,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1332,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001382711.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1332_1335delCGAG",
"hgvs_p": "p.Glu445fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369640.1",
"strand": true,
"transcript": "NM_001382711.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 463,
"aa_ref": "IE",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": 1418,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1332,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000868998.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1332_1335delCGAG",
"hgvs_p": "p.Glu445fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539057.1",
"strand": true,
"transcript": "ENST00000868998.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 463,
"aa_ref": "IE",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2260,
"cdna_start": 1474,
"cds_end": null,
"cds_length": 1392,
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